Nadirah S. Damseh

East Jerusalem, WBK, Palestine

Last Updated: 09/26/2026

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Found 36 publications

Case Report: DGAT1 deficiency in three infants including a novel missense variant: structural insights and comparison with reported cases.

Case Report: DGAT1 deficiency in three infants including a novel missense variant: structural insights and comparison with reported cases.

Journal: Frontiers in pediatrics

Published: March 12, 2026

A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder.

A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder.

Journal: BMC medical genomics

Published: February 02, 2026

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Journal: Genome medicine

Published: November 04, 2025

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Journal: The Journal of clinical investigation

Published: July 23, 2025

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.

Journal: EMBO molecular medicine

Published: May 06, 2025

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 05, 2025

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 05, 2025

Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification.

Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification.

Journal: Journal of medical genetics

Published: April 21, 2025

Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.

Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.

Journal: Journal of genetic counseling

Published: February 06, 2025

Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion.

Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion.

Journal: JIMD reports

Published: February 06, 2025

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.

Journal: Journal of medical genetics

Published: December 16, 2024

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 15, 2024

Showing 1-12 of 36

Last Updated: 09/26/2026